Gülen Eda Ütine - Concepedia

Author

Gülen Eda Ütine

Also Known As

G E Utine, G Eda Utine, G Eda Ütine, G. E. Utine, G. Eda UTINE, G. Eda Utine, G. Eda Utıne, G. Utine, G.E. Utine, Gulen E Utine

192

Publications

2.9K

Citations

H-Index

Concepts

All Affiliations

Hacettepe University Hacettepe University Hospital Acıbadem University Radboud University Nijmegen Radboud University Medical Center

About

Gülen Eda Ütine is an author at Hacettepe University specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	18	27	1.5K
2	Public Health	4	4	81
3	Social Sciences	2	2	84
4	Biostatistics	1	1	13
5	Cell Biology	1	1	36

Gülen Eda Ütine

Publications

2.3K

Citations

H-Index

Page 1

	Year	Citations
Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta Yasemin Alanay, Hrispima Avaygan, Natalia Camacho, The American Journal of Human Genetics SclerostinDevelopmental BiologyBone Morphogenic ProteinGeneticsOsteogenesis	2010	312
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes Audrey Putoux, Sophie Thomas, Karlien L. M. Coene, Nature Genetics Developmental AnomalyMendelian DisorderKif7 MutationsGenetic DisorderGenetics	2011	239
A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling Dagmar Wieczorek, Nina Bögershausen, Filippo Beleggia, Human Molecular Genetics	2013	227
Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly Matthew A. Lines, Lijia Huang, Jeremy Schwartzentruber, The American Journal of Human Genetics	2012	213
A mutation screen in patients with Kabuki syndrome Yun Li, Nina Bögershausen, Yasemin Alanay, Human Genetics Down SyndromeMendelian DisorderGenetic DisorderGeneticsPathology	2011	128
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome Pleuntje J. van der Sluijs, Sandra Jansen, Samantha A. Schrier Vergano, Genetics in Medicine	2018	127
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa Tim Van Damme, Thatjana Gardeitchik, Miski Mohamed, The American Journal of Human Genetics Genetic DisorderGeneticsPathogenesisMolecular GeneticsDisease Gene Identification	2017	113
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype Marialetizia Motta, Giulia Fasano, Sina Gredy, The American Journal of Human Genetics Mendelian DisorderGenetic DisorderGeneticsPathogenesisGenetic Epidemiology	2021	77
<i>PORCN</i>mutations in focal dermal hypoplasia: coping with lethality Dorothea Bornholdt, Frank Oeffner, Arne König, Human Mutation Developmental BiologySomatic VariantMendelian DisorderGenetic DisorderMedicine	2009	74
A Homozygous Deletion in <i>GRID2</i> Causes a Human Phenotype With Cerebellar Ataxia and Atrophy Gülen Eda Ütine, Göknur Haliloğlu, Bilge Volkan Salancı, Journal of Child Neurology Neurological DisorderGeneticsSynaptic SignalingSocial SciencesHomozygous Deletion	2013	72

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